Visualization of regulatory element with DNMs in transcripts



Visualization of de novo variants in transcripts


Visualization of original de novo CNV set
   There is no corresponding data published yet, we will update it when such data available.

Transcripts
Transcript ID Transcript exon region Coding exon region
ENST00000295666 [[57896938, 57897502], [57898591, 57898718], [57899360, 57899477], [57906989, 57907099], [57976042, 57976551]] [[57897482, 57897502], [57898591, 57898718], [57899360, 57899477], [57906989, 57907099], [57976042, 57976517]]
ENST00000537922 [[57898203, 57898718], [57899360, 57899477], [57906989, 57907099], [57976042, 57976551]] [[57898580, 57898718], [57899360, 57899477], [57906989, 57907099], [57976042, 57976517]]
ENST00000512512 [[57896938, 57897502], [57898591, 57898718], [57899360, 57899477], [57906989, 57907099], [57931654, 57931769]] None
ENST00000514062 [[57898203, 57898718], [57899360, 57899477], [57906989, 57907101]] None
NM_001553 [[57897236, 57897502], [57898591, 57898718], [57899360, 57899477], [57906989, 57907099], [57976042, 57976551]] [[57897482, 57897502], [57898591, 57898718], [57899360, 57899477], [57906989, 57907099], [57976042, 57976517]]
NM_001253835 [[57898403, 57898718], [57899360, 57899477], [57906989, 57907099], [57976042, 57976551]] [[57898580, 57898718], [57899360, 57899477], [57906989, 57907099], [57976042, 57976517]]
Promoter
Chrom Start End Description
chr4 57976544 57976560 CAGE_peak_1_at_IGFBP7_5end
chr4 57976573 57976582 CAGE_peak_2_at_IGFBP7_5end
chr4 57976588 57976589 CAGE_peak_3_at_IGFBP7_5end

Enhancer
Chrom Start End Genehancer ID Score Attributes
chr4 GH04I057048 57048735 57049001 0.6 [{'connected_gene': 'NOA1', 'score': 4.73}, {'connected_gene': 'UBE2CP3', 'score': 0.34}, {'connected_gene': 'RNU6-998P', 'score': 0.25}, {'connected_gene': 'IGFBP7', 'score': 0.21}]
chr4 GH04I057100 57100721 57100826 0.4 [{'connected_gene': 'POLR2B', 'score': 9.91}, {'connected_gene': 'NOA1', 'score': 9.91}, {'connected_gene': 'IGFBP7-AS1', 'score': 0.44}, {'connected_gene': 'IGFBP7', 'score': 0.44}, {'connected_gene': 'UBE2CP3', 'score': 0.31}]
chr4 GH04I057101 57101132 57105850 1.2 [{'connected_gene': 'POLR2B', 'score': 9.91}, {'connected_gene': 'NOA1', 'score': 9.91}, {'connected_gene': 'IGFBP7-AS1', 'score': 9.48}, {'connected_gene': 'IGFBP7', 'score': 7.27}, {'connected_gene': 'UBE2CP3', 'score': 0.29}]
chr4 GH04I057073 57073633 57084542 1.53 [{'connected_gene': 'IGFBP7', 'score': 21.7}, {'connected_gene': 'IGFBP7-AS1', 'score': 18.41}, {'connected_gene': 'RNU6-998P', 'score': 10.25}, {'connected_gene': 'UBE2CP3', 'score': 0.44}]
chr4 GH04I057084 57084913 57087449 0.31 [{'connected_gene': 'IGFBP7', 'score': 20.08}, {'connected_gene': 'IGFBP7-AS1', 'score': 12.9}, {'connected_gene': 'UBE2CP3', 'score': 0.39}]
chr4 GH04I057136 57136179 57137795 0.31 [{'connected_gene': 'IGFBP7', 'score': 18.6}, {'connected_gene': 'IGFBP7-AS1', 'score': 17.56}, {'connected_gene': 'GC04P057130', 'score': 0.44}, {'connected_gene': 'ENSG00000250192', 'score': 0.37}]
chr4 GH04I057115 57115095 57115244 0.31 [{'connected_gene': 'IGFBP7', 'score': 0.77}, {'connected_gene': 'IGFBP7-AS1', 'score': 0.44}, {'connected_gene': 'GC04P057130', 'score': 0.39}]
chr4 GH04I057059 57059971 57066910 1.1 [{'connected_gene': 'IGFBP7', 'score': 7.25}, {'connected_gene': 'ENSG00000269949', 'score': 6.71}, {'connected_gene': 'UBE2CP3', 'score': 0.44}, {'connected_gene': 'RNU6-998P', 'score': 0.21}]
chr4 GH04I057049 57049264 57050158 0.2 [{'connected_gene': 'IGFBP7', 'score': 5.4}, {'connected_gene': 'UBE2CP3', 'score': 0.34}, {'connected_gene': 'RNU6-998P', 'score': 0.25}]
chr4 GH04I057148 57148195 57149475 0.43 [{'connected_gene': 'IGFBP7-AS1', 'score': 12.05}, {'connected_gene': 'IGFBP7', 'score': 12.05}, {'connected_gene': 'SPINK2', 'score': 4.15}, {'connected_gene': 'ENSG00000250192', 'score': 0.44}, {'connected_gene': 'GC04P057130', 'score': 0.37}]
chr4 GH04I057163 57163155 57164764 1.07 [{'connected_gene': 'IGFBP7-AS1', 'score': 11.8}, {'connected_gene': 'IGFBP7', 'score': 11.8}, {'connected_gene': 'RNU6-998P', 'score': 9.64}, {'connected_gene': 'ENSG00000250192', 'score': 0.44}, {'connected_gene': 'GC04P057230', 'score': 0.2}]
chr4 GH04I057106 57106050 57106779 0.2 [{'connected_gene': 'IGFBP7-AS1', 'score': 0.77}, {'connected_gene': 'IGFBP7', 'score': 0.77}, {'connected_gene': 'UBE2CP3', 'score': 0.29}]
chr4 GH04I057087 57087508 57088108 0.2 [{'connected_gene': 'IGFBP7-AS1', 'score': 12.9}, {'connected_gene': 'IGFBP7', 'score': 12.9}, {'connected_gene': 'UBE2CP3', 'score': 0.37}]
chr4 GH04I057131 57131962 57132598 0.4 [{'connected_gene': 'IGFBP7-AS1', 'score': 12.06}, {'connected_gene': 'IGFBP7', 'score': 12.06}, {'connected_gene': 'GC04P057130', 'score': 0.77}, {'connected_gene': 'ENSG00000250192', 'score': 0.34}]
chr4 GH04I057107 57107001 57112640 2.13 [{'connected_gene': 'IGFBP7-AS1', 'score': 560.86}, {'connected_gene': 'IGFBP7', 'score': 557.46}]
chr4 GH04I057118 57118164 57120367 1.33 [{'connected_gene': 'IGFBP7-AS1', 'score': 10.19}, {'connected_gene': 'IGFBP7', 'score': 2.43}, {'connected_gene': 'GC04P057130', 'score': 0.39}]
chr4 GH04I057090 57090001 57090844 0.78 [{'connected_gene': 'RNU6-998P', 'score': 9.62}, {'connected_gene': 'POLR2B', 'score': 9.61}, {'connected_gene': 'NOA1', 'score': 9.61}, {'connected_gene': 'IGFBP7', 'score': 5.11}, {'connected_gene': 'IGFBP7-AS1', 'score': 0.37}, {'connected_gene': 'UBE2CP3', 'score': 0.37}]
chr4 GH04I057093 57093986 57096846 0.94 [{'connected_gene': 'RNU6-998P', 'score': 10.34}, {'connected_gene': 'POLR2B', 'score': 9.6}, {'connected_gene': 'NOA1', 'score': 9.6}, {'connected_gene': 'IGFBP7-AS1', 'score': 7.41}, {'connected_gene': 'IGFBP7', 'score': 0.39}, {'connected_gene': 'UBE2CP3', 'score': 0.34}]
chr4 GH04I057091 57091072 57092087 0.2 [{'connected_gene': 'RNU6-998P', 'score': 9.62}, {'connected_gene': 'POLR2B', 'score': 9.61}, {'connected_gene': 'NOA1', 'score': 9.61}, {'connected_gene': 'IGFBP7-AS1', 'score': 0.37}, {'connected_gene': 'IGFBP7', 'score': 0.37}, {'connected_gene': 'UBE2CP3', 'score': 0.37}]
chr4 GH04I057097 57097799 57100431 0.94 [{'connected_gene': 'RNU6-998P', 'score': 10.33}, {'connected_gene': 'POLR2B', 'score': 9.91}, {'connected_gene': 'NOA1', 'score': 9.91}, {'connected_gene': 'IGFBP7-AS1', 'score': 0.39}, {'connected_gene': 'IGFBP7', 'score': 0.39}, {'connected_gene': 'UBE2CP3', 'score': 0.31}]
chr4 GH04I057098 57097160 57097552 0.2 [{'connected_gene': 'RNU6-998P', 'score': 10.34}, {'connected_gene': 'IGFBP7', 'score': 5.74}, {'connected_gene': 'IGFBP7-AS1', 'score': 0.39}, {'connected_gene': 'UBE2CP3', 'score': 0.34}]
chr4 GH04I057068 57068401 57069400 0.69 [{'connected_gene': 'RNU6-998P', 'score': 10.61}, {'connected_gene': 'IGFBP7', 'score': 6.07}, {'connected_gene': 'UBE2CP3', 'score': 0.77}]
chr4 GH04I057042 57041530 57047216 0.92 [{'connected_gene': 'RNU6-998P', 'score': 11.05}, {'connected_gene': 'ENSG00000269949', 'score': 6.15}, {'connected_gene': 'IGFBP7', 'score': 5.46}, {'connected_gene': 'UBE2CP3', 'score': 0.31}]
chr4 GH04I057050 57050523 57056868 0.89 [{'connected_gene': 'RNU6-998P', 'score': 10.56}, {'connected_gene': 'IGFBP7', 'score': 7.06}, {'connected_gene': 'ENSG00000269949', 'score': 5.65}, {'connected_gene': 'UBE2CP3', 'score': 0.37}]
chr4 GH04I057070 57070494 57071863 0.78 [{'connected_gene': 'UBE2CP3', 'score': 550.77}, {'connected_gene': 'IGFBP7', 'score': 18.87}, {'connected_gene': 'IGFBP7-AS1', 'score': 16.83}, {'connected_gene': 'RNU6-998P', 'score': 10.55}]
chr4 GH04I057072 57072325 57073395 0.43 [{'connected_gene': 'UBE2CP3', 'score': 550.77}, {'connected_gene': 'IGFBP7', 'score': 18.24}, {'connected_gene': 'IGFBP7-AS1', 'score': 16.82}]
chr4 GH04I057037 57037249 57038836 0.63 [{'connected_gene': 'ENSG00000269949', 'score': 21.76}, {'connected_gene': 'RNU6-998P', 'score': 11.65}, {'connected_gene': 'NOA1', 'score': 11.58}, {'connected_gene': 'POLR2B', 'score': 11.56}, {'connected_gene': 'UBE2CP3', 'score': 0.29}, {'connected_gene': 'IGFBP7', 'score': 0.19}]
chr4 GH04I057038 57038914 57041140 0.46 [{'connected_gene': 'ENSG00000269949', 'score': 14.64}, {'connected_gene': 'RNU6-998P', 'score': 10.79}, {'connected_gene': 'NOA1', 'score': 7.93}, {'connected_gene': 'UBE2CP3', 'score': 0.29}, {'connected_gene': 'IGFBP7', 'score': 0.19}]
chr4 GH04I057034 57034271 57036133 0.38 [{'connected_gene': 'ENSG00000269949', 'score': 22.25}, {'connected_gene': 'RNU6-998P', 'score': 11.66}, {'connected_gene': 'POLR2B', 'score': 11.58}, {'connected_gene': 'NOA1', 'score': 11.58}, {'connected_gene': 'UBE2CP3', 'score': 0.28}, {'connected_gene': 'IGFBP7', 'score': 0.18}]
chr4 GH04I057041 57041384 57041444 0.4 [{'connected_gene': 'ENSG00000269949', 'score': 12.65}, {'connected_gene': 'RNU6-998P', 'score': 11.06}, {'connected_gene': 'UBE2CP3', 'score': 0.29}, {'connected_gene': 'IGFBP7', 'score': 0.2}]
chr4 GH04I057057 57057249 57058066 0.4 [{'connected_gene': 'ENSG00000269949', 'score': 4.85}, {'connected_gene': 'UBE2CP3', 'score': 0.39}, {'connected_gene': 'IGFBP7', 'score': 0.23}, {'connected_gene': 'RNU6-998P', 'score': 0.23}]